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Human Mutation, ISSN 1059-7794, 12/2010, Volume 31, Issue 12, pp. 1269 - 1279
Journal Article
Journal Article
American Journal of Hematology, ISSN 0361-8609, 10/2014, Volume 89, Issue 10, pp. 985 - 991
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 07/2014, Volume 61, Issue 7, pp. 1319 - 1321
Mutations in the hematopoietic transcription factor GATA-1 alter the proliferation/differentiation of hemopoietic progenitors. Mutations in exon 2 interfere... 
Gata‐1 | Diamond–Blackfan | ribosomal protein | erythropoiesis | anemia | Diamond-Blackfan | Erythropoiesis | Anemia | Ribosomal protein | Gata-1 | Point Mutation | Codon, Initiator - genetics | Anemia, Diamond-Blackfan - genetics | Humans | GATA1 Transcription Factor - genetics | Female | Male | Protein Isoforms - genetics | Proteins | Genetic aspects | Genetic disorders | Index Medicus
Journal Article
BMC Genomics, ISSN 1471-2164, 09/2009, Volume 10, Issue 1, pp. 442 - 442
Journal Article
British Journal of Haematology, ISSN 0007-1048, 03/2016, Volume 172, Issue 5, pp. 782 - 785
Diamond‐Blackfan anaemia ( DBA ) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a ‘ribosomopathy’. We report a... 
mutation | diagnosis | Diamond Blackfan anaemia | gene | rRNA | RP gene | Diagnosis | Mutation | PHENOTYPE | MUTATIONS | HEMATOLOGY | Anemia, Diamond-Blackfan - genetics | Gene Deletion | Humans | Electrophoresis, Capillary - methods | RNA, Ribosomal - genetics | Anemia, Diamond-Blackfan - diagnosis | Case-Control Studies | Ribosomal RNA | Anemia | Analysis | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2011, Volume 155, Issue 11, pp. 2746 - 2749
Journal Article